Unidad de Investigación en Reproducción Humana, Instituto Nacional de Perinatología-Facultad de Química, Universidad Nacional Autónoma de México, Ciudad de México, México.
Unidad de Investigación en Reproducción Humana, Consejo Nacional de Ciencia y Tecnología (CONACyT)-Instituto Nacional de Perinatología, Ciudad de México, México.
Reproduction. 2019 Jul;158(1):R27-R40. doi: 10.1530/REP-18-0449.
Polycystic ovary syndrome (PCOS) is the leading endocrine and metabolic disorder in premenopausal women characterized by hyperandrogenism and abnormal development of ovarian follicles. To date, the PCOS etiology remains unclear and has been related to insulin resistance, obesity, type 2 diabetes mellitus, cardiovascular disease and infertility, among other morbidities. Substantial evidence illustrates the impact of genetic, intrauterine and environmental factors on the PCOS etiology. Lately, epigenetic factors have garnered considerable attention in the pathogenesis of PCOS considering that changes in the content of DNA methylation, histone acetylation and noncoding RNAs have been reported in various tissues of women with this disease. DNA methylation is changed in the peripheral and umbilical cord blood, as well as in ovarian and adipose tissue of women with PCOS, suggesting the involvement of this epigenetic modification in the pathogenesis of the disease. Perhaps, these defects in DNA methylation promote the deregulation of genes involved in inflammation, hormone synthesis and signaling and glucose and lipid metabolism. Research on the role of DNA methylation in the pathogenesis of PCOS is just beginning, and several issues await investigation. This review aims to provide an overview of current research focused on DNA methylation and PCOS, as well as discuss the perspectives regarding this topic.
多囊卵巢综合征（PCOS）是一种以内分泌和代谢紊乱为特征的疾病，主要发生于绝经前妇女，其特征为高雄激素血症和卵巢卵泡发育异常。迄今为止，PCOS 的病因尚不清楚，与胰岛素抵抗、肥胖、2 型糖尿病、心血管疾病和不孕等多种疾病有关。大量证据表明遗传、宫内和环境因素对 PCOS 的病因有影响。最近，表观遗传因素在 PCOS 的发病机制中引起了相当大的关注，因为在患有这种疾病的女性的各种组织中已经报道了 DNA 甲基化、组蛋白乙酰化和非编码 RNA 含量的变化。PCOS 患者的外周血和脐带血、卵巢组织和脂肪组织中的 DNA 甲基化发生改变，提示这种表观遗传修饰参与了疾病的发病机制。也许，这些 DNA 甲基化的缺陷会促进参与炎症、激素合成和信号转导以及葡萄糖和脂质代谢的基因失调。关于 DNA 甲基化在 PCOS 发病机制中的作用的研究才刚刚开始，还有几个问题需要研究。本文旨在综述目前关于 DNA 甲基化与 PCOS 的研究，并讨论该领域的研究进展。
